Pachydermoperiostosis

Common Name(s)

Pachydermoperiostosis

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported.  Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachydermoperiostosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachydermoperiostosis" returned 29 free, full-text research articles on human participants. First 3 results:

Images in clinical medicine. Pachydermoperiostosis.
 

Author(s): Cai-Yue Liu, Ying-Fan Zhang

Journal: N. Engl. J. Med.. 2014 May;370(20):1930.

 

Last Updated: 15 May 2014

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Complete form of pachydermoperiostosis: a case report.
 

Author(s): Ram Chander, Sushil Kakkar, Arpita Jain, Meenu Barara, Kiran Agarwal, Bincy Varghese

Journal:

 

Pachydermoperiostosis is a primary form of hypertrophic osteoarthropathy, which presents with pachydermia, digital clubbing, and radiologic periostosis. Pachydermoperiostosis occurs owing to mutations of the gene encoding for 15-hydroxyprostaglandin dehydrogenase (15HPGD). Clinical ...

Last Updated: 11 Mar 2013

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Prostaglandin E2 increase in pachydermoperiostosis without 15-hydroprostaglandin dehydrogenase mutations.
 

Author(s): Kyoko Nakahigashi, Atsushi Otsuka, Hiromi Doi, Satsuki Tanaka, Yoshiaki Okajima, Hironori Niizeki, Asami Hirakiyama, Yoshiki Miyachi, Kenji Kabashima

Journal: Acta Derm. Venereol.. 2013 Jan;93(1):118-9.

 

Last Updated: 10 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachydermoperiostosis" returned 1 free, full-text review articles on human participants. First 3 results:

Pachydermoperiostosis with myelofibrosis and anemia: report of a case of anemia of multifactorial causes and its improvement with steroid pulse and iron therapy.
 

Author(s): H Tanaka, S Maehama, F Imanaka, A Sakai, K Abe, M Hamada, J Yamashita, A Kimura, N Imamura, K Fujimura

Journal: Jpn. J. Med.. ;30(1):73-80.

 

A 26-year-old male patient with pachydermoperiostosis is reported. He had severe anemia with myelofibrosis. Treatment with iron, prednisolone, oxymethorone and 1 alpha (OH)D3 were not satisfactory. But steroid pulse therapy with parenteral iron improved his anemia and pancytopenia, ...

Last Updated: 11 Sep 1991

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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